Medical and Health Science Journal
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| Volume | 6 |
| Issue | 2 |
| Online publication date | 2011-04-04 |
| Title | Neural tube defects and polymorphism of methylenetetrahydrofolate reductase gene in Kazakh population |
| Author | Zhanar Makhmutova, Gulnara Svyatova |
| Abstract | The mutations of MTHFR gene in various populations are considered as risk factors for neural tube defects. The frequencies of MTHFR genotypes among the mothers of NTD cases were: ССаа - 15,4%, ССас - 15.4%, ССсс - 10%, СТаа - 16.9%, СТас - 30.8%, СТсс - 6.9%, ТТаа - 3.8%, ТТас - 0.8%. The frequencies of this genotypes among controls were: ССаа - 29%, ССас - 21%, ССсс - 6%, СТаа - 30%, СТас - 13%, СТсс - 1%, ТТаа - 1%. Thus, the frequencies of СТас, СТсс, ТТаа, ТТас genotypes of С677Т and А1298С polymorphisms of MTHFR in the basic group authentically exceed similar parameters in the group of healthy control (р<0.05). The research indicates on presence of clinical and diagnostic significance of the investigated polymorphisms of the MTHFR gene in the development of NTDs. Ascertainment of the etiologic aspects of fetal NTDs in the Kazakh population makes it possible to develop preventive measures and optimization of medical genetic counseling in order to reduce fetal NTDs in the population. |
| Citation | |
| References | Bochkov, N., 1997. The clinical genetics [Klinicheskaya genetika], in Russian, Moscow Botto, L., Yang Q., 2000. “5, 10-methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGe review,” Am.J. Epidemiol., Vol.151 (9), pp.877-78 Brender, J., Suarez, L., Felkner, M. et al., 2006. “Maternal exposure to arsenic, cadmium, lead, and mercury and neural tube defects in offspring,” Environ. Res., Vol.101(1), pp.132-39 Busby, A., Abramsky, L., Dolk, H., 2005. “Eurocat Folic Acid Working Group. Preventing neural tube defects in Europe: Population based study,” BMJ, Vol.330(12), pp.574-75 Edwards, M., Shiota, K., Smith, M. et al., 1995. “Hyperthermia and birth defects,” Report Toxicol., pp.411-25 Felkner, M., Hendricks, K., Suarez, L., 2003. “Diarrhea: A new risk factor for neural tube defects? Birth Defects Res.”, A Clin Mol Teratol., Vol.67(7), pp.504-508 Sadewa, A., Sunarti, R., Sutomo, R. et. al., 2002. “The mutation in the methylenetetrahydrofolate reductase gene among the Indonesian Javaness population,” Kobe J. Med. Sci., Vol.48(4), pp.137-44 Volcik, K., Blanton, S., Tyerman, G. et al., 2000. “Methylenetetrahydrofolate reductase and spina bifida: Evaluation of level of defect and maternal genotypic risk in Hispanic,” Amer. J Med. Genetics, Vol.95, pp.21-27 Watson, K, Sellers, E, 2005. “Neural tube defects,” CMAJ, pp.158-159 |
| Keywords | Methylenetetrahydrofolate reductase, neural tube defects, polymorphism |
| DOI | http://dx.doi.org/10.15208/mhsj.2011.100 |
| Pages | 7-11 |
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